Introduction
Epilepsy is a neurological disorder that affects up to 3% of the population. Chromosome abnormalities, copy number variants (CNVs), and sequence variants are the underlying causes of an important proportion of epilepsy cases. Identifying the precise genetic etiology is paramount to guiding medical management, as epilepsy is increasingly amenable to precision medicine therapies. Although multiple studies have reported on the genetic findings in cohorts of patients with epilepsy using microarray, multigene panels, exome sequencing, and genome sequencing, the sensitivity at which small (intragenic) CNVs are detected is quite variable across these assays, as CNVs remain a challenging variant type to detect with many NGS assays. This study describes intragenic CNVs identified in patients with epilepsy undergoing NGS multigene panel testing to further define their prevalence and clinical implications.
A positive genetic test result can impact medical management for individuals with epilepsy
- 8% of children tested received a positive result
- 1 in every 10 adults tested received a positive result
Copy number variants (CNV) detection is important
- 1 in 10 patients with a positive result had a CNV
CNVs <1000 base pairs in size can be challenging to detect by NGS
- Of patients who had a CNV, 1 of every 5 had a CNV <1000 base pairs in size
Authors:
Lotta Koskinen, Julie Hathaway, Kirsi Alakurtti, Mònica Segura Castell, Åsa Hagström, Heli Kuisma, Kimberly Gall, Inka Saarinen, Mikko Muona, Tuuli Pietilä, Janica Djupsjöbacka, Massimiliano Gentile, Pertteli Salmenperä, Sari Tuupanen, Tiia Kangas-Kontio, Kati Kämpjärvi, Eija H Seppälä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo
Presented at ESHG 2023